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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:Extramedullary hematopoiesis
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Accession:HP:0001978 term browser browse the term
Definition:The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.
Comment:During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. Some pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. The most common causes of Extramedullary hematopoieses (EMH) are myelofibrosis, diffuse osseous metastatic disease replacing the bone marrow, leukemia, sickle-cell anemia, and thalassemia. EMH is usually microscopic and asymptomatic, but it can sometimes manifest as organomegaly and tumor-like masses. Rarely, it can cause cord compression, pleural effusion, massive hemothorax, and respiratory failure.
Synonyms:related_synonym: Extramedullary erythropoiesis
 alt_id: HP:0004847
 xref: SNOMEDCT_US:124958002;   SNOMEDCT_US:42952007;   UMLS:C1292120;   UMLS:C2613439


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Extramedullary hematopoiesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 IAGP HPO ORPHA:79303 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305 		JBrowse link
G ANK1 ankyrin 1 IAGP HPO ORPHA:822 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO MIM:259730 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CALR calreticulin IAGP HPO MIM:254450 ORPHA:824 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP HPO ORPHA:822 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP HPO MIM:612840 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:313855 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231222 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:254450 ORPHA:824 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:617021 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO MIM:254450 ORPHA:824 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO ORPHA:2886 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		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 SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO ORPHA:822 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP HPO ORPHA:822 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP HPO ORPHA:822 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:824 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO MIM:259710 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G VPS45 vacuolar protein sorting 45 homolog IAGP HPO MIM:615285 NCBI chr 1:150,067,382...150,145,329
Ensembl chr 1:150,067,279...150,145,329 		JBrowse link
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Term Annotations click to browse term
  Human phenotype 74025
    Phenotypic abnormality 73720
      Abnormality of blood and blood-forming tissues 5981
        Extramedullary hematopoiesis 20
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