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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:Hematochezia
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Accession:HP:0002573 term browser browse the term
Definition:The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Comment:Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis.
Synonyms:exact_synonym: Rectal bleeding
 related_synonym: RECURRENT RECTAL BLEEDING
 alt_id: HP:0002255;   HP:0002609
 xref: MESH:D006471;   SNOMEDCT_US:236068001;   SNOMEDCT_US:405729008;   UMLS:C0018932


show annotations for term's descendants           Sort by:
Hematochezia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO OMIM:600376 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G AMACR alpha-methylacyl-CoA racemase IAGP HPO OMIM:214950 ORPHA:79095 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO OMIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO OMIM:174900 ORPHA:157794 ORPHA:329971 ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,756,596...86,932,825 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Hematochezia ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP ClinVar Annotator: match by term: Recurrent rectal bleeding ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO OMIM:613812 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G ENG endoglin IAGP HPO OMIM:187300 ORPHA:329971 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:326 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Hematochezia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP HPO ORPHA:157794 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP HPO OMIM:203300 NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP HPO OMIM:613148 NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G PLVAP plasmalemma vesicle associated protein IAGP HPO OMIM:618183 NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO OMIM:615895 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO OMIM:174900 OMIM:175050 ORPHA:329971 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G TAOK1 TAO kinase 1 IAGP HPO OMIM:619575 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO OMIM:243150 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 16554
    Phenotypic abnormality 16547
      Abnormality of blood and blood-forming tissues 2211
        Abnormal bleeding 583
          Internal hemorrhage 343
            Gastrointestinal hemorrhage 161
              Hematochezia 23
Path 2
Term Annotations click to browse term
  Human phenotype 16554
    Phenotypic abnormality 16547
      Abnormality of the cardiovascular system 3593
        Abnormal cardiovascular system physiology 2013
          Abnormality of blood circulation 366
            Internal hemorrhage 343
              Gastrointestinal hemorrhage 161
                Hematochezia 23
paths to the root