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HUMAN PHENOTYPE - ANNOTATIONS

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:Abnormal granulocytopoietic cell morphology
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Accession:HP:0012135 term browser browse the term
Definition:An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.
Synonyms:exact_synonym: Abnormality of cells of the granulocytic lineage
 xref: UMLS:C4023031



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Abnormal granulocytopoietic cell morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 IAGP OMIM:300835 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP OMIM:612376 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G RARA retinoic acid receptor alpha IAGP OMIM:612376 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
Abnormal number of granulocyte precursors term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SF3B1 splicing factor 3b subunit 1 IAGP ORPHA:75564 HPO NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:75564 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
Dysplastic granulopoesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SF3B1 splicing factor 3b subunit 1 IAGP ORPHA:75564 HPO NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:75564 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
Granulocytic hyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP ORPHA:98849 HPO NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ORPHA:98849 HPO NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP ORPHA:98849 HPO NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:98849 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
Granulocytic hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL18 ribosomal protein L18 IAGP OMIM:618310 HPO NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
JBrowse link
Myelokathexis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR2 C-X-C motif chemokine receptor 2 IAGP OMIM:619407 HPO NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP OMIM:193670 ORPHA:51636 HPO NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14838
    Phenotypic abnormality 14835
      Abnormality of blood and blood-forming tissues 1953
        Abnormality of bone marrow cell morphology 214
          Abnormal granulocytopoietic cell morphology 11
            Abnormal number of granulocyte precursors + 6
            Dysplastic granulopoesis 2
            Myelokathexis 2
paths to the root