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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:Bloody diarrhea
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Accession:HP:0025085 term browser browse the term
Definition:Passage of many stools containing blood.
Comment:Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea.
Synonyms:exact_synonym: Bloody bowel movement;   Bloody diarrhoea
 broad_synonym: Blood in stool;   Bloody stool


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Bloody diarrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM17 ADAM metallopeptidase domain 17 IAGP HPO NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732 		JBrowse link
G APOA4 apolipoprotein A4 severity IAGP DNA:missense mutation:cds:p.Q360H RGD PMID:17206692 RGD:5685660 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G CARD8 caspase recruitment domain family member 8 IAGP HPO NCBI chr19:48,179,825...48,255,946
Ensembl chr19:48,180,770...48,255,946 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 IAGP HPO NCBI chr10:99,694,293...99,732,127
Ensembl chr10:99,710,868...99,732,127 		JBrowse link
G DAXX death domain associated protein IAGP HPO NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016 		JBrowse link
G EGFR epidermal growth factor receptor IAGP HPO NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IL37 interleukin 37 IAGP HPO NCBI chr 2:112,911,165...112,918,882
Ensembl chr 2:112,911,165...112,918,882 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
Hematochezia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO 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 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 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239 		JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO 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 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,756,601...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 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 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 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 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 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 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 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 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 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045 		JBrowse link
G TAOK1 TAO kinase 1 IAGP HPO 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 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 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 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
Melena term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,756,601...86,932,825 		JBrowse link
G CD109 CD109 molecule IAGP HPO NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G DAXX death domain associated protein IAGP HPO NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016 		JBrowse link
G ENG endoglin IAGP HPO NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP HPO NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G KIF23 kinesin family member 23 IAGP HPO NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427 		JBrowse link
G MEN1 menin 1 IAGP HPO NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930 		JBrowse link
G RACGAP1 Rac GTPase activating protein 1 IAGP HPO NCBI chr12:49,989,162...50,033,440
Ensembl chr12:49,976,923...50,033,136 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 16463
    Phenotypic abnormality 16461
      Abnormality of the digestive system 4471
        Abnormality of digestive system physiology 2303
          Abdominal symptom 1867
            Diarrhea 399
              Bloody diarrhea 51
                Bloody mucoid diarrhea 0
                Hematochezia 23
                Melena 23
paths to the root