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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 spleen physiology
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Accession:HP:0025409 term browser browse the term
Definition:Any anomaly of the function of the spleen.



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Hypersplenism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP ORPHA:98850 HPO NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G CASP10 caspase 10 IAGP ORPHA:3261 HPO NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G CBL Cbl proto-oncogene IAGP ORPHA:98850 HPO NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP ORPHA:731 HPO NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
JBrowse link
G FAS Fas cell surface death receptor IAGP ORPHA:3261 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP ORPHA:3261 HPO NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP OMIM:230800 ORPHA:77259 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G HBB hemoglobin subunit beta IAGP ORPHA:231226 HPO NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP OMIM:613385 HPO NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
G LIPA lipase A, lysosomal acid type IAGP OMIM:278000 HPO NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G MED12 mediator complex subunit 12 IAGP OMIM:301068 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G NOTCH1 notch receptor 1 IAGP OMIM:616028 HPO NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ORPHA:731 HPO NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G PRKCD protein kinase C delta IAGP ORPHA:3261 HPO NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PSAP prosaposin IAGP OMIM:610539 HPO NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP ORPHA:3261 HPO NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP ORPHA:98850 HPO NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP ORPHA:77259 HPO NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP ORPHA:77293 HPO NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP ORPHA:98850 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:98850 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TULP3 TUB like protein 3 IAGP OMIM:619902 HPO NCBI chr12:2,890,891...2,941,138
Ensembl chr12:2,877,223...2,941,138
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of the digestive system 4375
        Abnormality of the abdominal organs 1536
          Abnormality of the spleen 712
            Abnormal spleen physiology 22
              Hypersplenism 22
Path 2
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of the cardiovascular system 3445
        Abnormality of the vasculature 2170
          Abnormality of the lymphatic system 911
            Abnormality of the spleen 712
              Abnormal spleen physiology 22
                Hypersplenism 22
paths to the root