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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:Myeloproliferative disorder
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Accession:HP:0005547 term browser browse the term
Definition:Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Comment:There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis.
Synonyms:xref: EFO:0004251;   SNOMEDCT_US:414794006;   SNOMEDCT_US:425333006;   UMLS:C0027022



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Myeloproliferative disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO ORPHA:521 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
JBrowse link
G ALAD aminolevulinate dehydratase IAGP HPO ORPHA:100924 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:521 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G CALR calreticulin IAGP HPO MIM:254450 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Myeloproliferative disorder ClinVar PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More... NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP ClinVar Annotator: match by term: Myeloproliferative disorder ClinVar NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Myeloproliferative disorder ClinVar PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 More... NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO ORPHA:228423 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
JBrowse link
G INSL6 insulin like 6 IAGP ClinVar Annotator: match by term: Myeloproliferative disorder ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 9:4,991,976...5,185,639
Ensembl chr 9:5,123,880...5,185,647
JBrowse link
G JAK2 Janus kinase 2 severity
no_association
IAGP DNA:missense mutation:cds:p.V617F
DNA:SNPs:introns: (rs12343867, rs10974944)
DNA:SNP:intron: (rs12342421)
ClinVar Annotator: match by term: Myeloproliferative disorder
HPO
ClinVar
RGD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... MIM:254450, RGD:10449393, RGD:10449376, RGD:10449376 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO MIM:254450 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP DNA:SNPs: :677C>T, 1298A>C RGD PMID:23107469 RGD:10449419 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO MIM:607685 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:131440 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO ORPHA:521 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO MIM:254450 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 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 HPO ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
Transient myeloproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Transient myeloproliferative syndrome ClinVar
HPO
PMID:27993330 MIM:159595 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of blood and blood-forming tissues 6338
        Abnormal leukocyte morphology 3160
          Leukemia 2566
            Myeloproliferative disorder 87
              Transient myeloproliferative syndrome 1
Path 2
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the immune system 12995
        Abnormal immune system morphology 3196
          Abnormal cellular immune system morphology 3160
            Abnormal leukocyte morphology 3160
              Leukemia 2566
                Myeloproliferative disorder 87
                  Transient myeloproliferative syndrome 1
paths to the root