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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:CSF pleocytosis
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Accession:HP:0012229 term browser browse the term
Definition:An increased white blood cell count in the cerebrospinal fluid.
Synonyms:exact_synonym: Cerebrospinal fluid pleocytosis;   Increased leukocyte count in CSF
 xref: SNOMEDCT_US:91454002;   UMLS:C0151857


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CSF pleocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO MIM:615010 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:569 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:569 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3437 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO MIM:619486 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO MIM:603472 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 susceptibility IAGP DNA:snp:cds:p.V762A (rs1136410) RGD PMID:21651918 RGD:5683901 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PRF1 perforin 1 IAGP HPO MIM:603553 ORPHA:540 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:569 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:3437 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:569 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SLC13A3 solute carrier family 13 member 3 IAGP HPO MIM:618384 NCBI chr20:46,557,828...46,684,485
Ensembl chr20:46,557,823...46,684,467 		JBrowse link
G STX11 syntaxin 11 IAGP HPO ORPHA:540 NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO ORPHA:540 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G UNC13D unc-13 homolog D IAGP HPO ORPHA:540 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
Chronic CSF lymphocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO MIM:610181 ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:225750 ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
CSF lymphocytic pleiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:569 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:569 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G IRF3 interferon regulatory factor 3 IAGP HPO MIM:616532 NCBI chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:569 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO MIM:610333 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO MIM:610329 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO MIM:612952 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:569 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO ORPHA:1930 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TICAM1 TIR domain containing adaptor molecule 1 IAGP HPO ORPHA:1930 NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712 		JBrowse link
G TLR3 toll like receptor 3 IAGP HPO ORPHA:1930 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TRAF3 TNF receptor associated factor 3 IAGP HPO ORPHA:1930 NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:225750 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator IAGP HPO ORPHA:1930 NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the nervous system 28524
        Abnormal nervous system morphology 5271
          Morphological central nervous system abnormality 5156
            Abnormal cerebrospinal fluid morphology 657
              CSF pleocytosis 28
                CSF lymphocytic pleiocytosis + 19
                CSF polymorphonuclear pleocytosis 0
                Cerebrospinal fluid eosinophilia 0
paths to the root