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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:Intestinal obstruction
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Accession:HP:0005214 term browser browse the term
Definition:Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
Synonyms:exact_synonym: Bowel obstruction;   Intestinal blockage
 alt_id: HP:0005239
 xref: MESH:D007415;   SNOMEDCT_US:81060008;   UMLS:C0021843


show annotations for term's descendants           Sort by:
Intestinal obstruction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:388 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP ClinVar Annotator: match by term: Intestinal obstruction ClinVar PMID:22960657 PMID:24777424 PMID:25741868 PMID:29781137 NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:873 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:388 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G CALR calreticulin IAGP HPO ORPHA:131 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP HPO OMIM:226300 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:873 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G ECE1 endothelin converting enzyme 1 IAGP HPO ORPHA:388 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
G EDN3 endothelin 3 IAGP HPO ORPHA:388 ORPHA:897 NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992 		JBrowse link
G EDNRB endothelin receptor type B IAGP HPO ORPHA:388 ORPHA:897 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO ORPHA:388 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO ORPHA:388 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO OMIM:601675 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Intestinal obstruction ClinVar PMID:25741868 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:131 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Intestinal obstruction ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP HPO ORPHA:388 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:900 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G IL6 interleukin 6 IAGP HPO OMIM:266600 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:131 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G JAK3 Janus kinase 3 IAGP HPO OMIM:600802 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO OMIM:606764 ORPHA:44890 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:342 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP HPO ORPHA:897 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MVK mevalonate kinase IAGP HPO ORPHA:343 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:543 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO OMIM:619350 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO OMIM:266600 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:2591 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NRTN neurturin IAGP HPO ORPHA:388 NCBI chr19:5,805,067...5,828,324
Ensembl chr19:5,805,067...5,828,324 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:44890 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO ORPHA:2591 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:388 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:44890 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO OMIM:606764 ORPHA:44890 ORPHA:97286 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO OMIM:606764 ORPHA:44890 ORPHA:97286 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:97286 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEMA3C semaphorin 3C IAGP HPO ORPHA:388 NCBI chr 7:80,742,538...80,922,389
Ensembl chr 7:80,742,538...80,922,359 		JBrowse link
G SEMA3D semaphorin 3D IAGP HPO ORPHA:388 NCBI chr 7:84,995,553...85,250,243
Ensembl chr 7:84,995,553...85,187,056 		JBrowse link
G SLC26A3 solute carrier family 26 member 3 IAGP ClinVar Annotator: match by term: Intestinal obstruction ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:28492532 PMID:31680349 More... NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:388 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:897 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO ORPHA:388 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO ORPHA:2323 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:32960 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		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
Ileus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAVIN1 caveolae associated protein 1 IAGP HPO OMIM:613327 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO OMIM:219700 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP HPO ORPHA:83469 NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO OMIM:304790 ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO OMIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO ORPHA:79473 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO OMIM:300352 ORPHA:52503 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO OMIM:609136 ORPHA:163746 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:219700 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:83469 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Meconium ileus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf60 chromosome 12 open reading frame 60 IAGP ClinVar Annotator: match by term: Meconium ileus ClinVar PMID:22521417 PMID:25370039 NCBI chr12:14,803,670...14,824,415
Ensembl chr12:14,803,666...14,906,586 		JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP HPO ORPHA:586 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554 		JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP HPO ORPHA:586 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO OMIM:219700 ORPHA:586 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CLCA4 chloride channel accessory 4 IAGP HPO ORPHA:586 NCBI chr 1:86,547,078...86,580,754
Ensembl chr 1:86,547,078...86,580,754 		JBrowse link
G DCTN4 dynactin subunit 4 IAGP HPO ORPHA:586 NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,708,440...150,759,095 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO ORPHA:586 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP HPO ORPHA:586 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 IAGP HPO ORPHA:586 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038 		JBrowse link
G GUCY2C guanylate cyclase 2C IAGP ClinVar Annotator: match by term: Meconium ileus ClinVar
HPO		 PMID:4006357 PMID:22521417 PMID:25370039 PMID:25741868 PMID:28492532 More... OMIM:614665 NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599 		JBrowse link
G GUCY2C-AS1 GUCY2C antisense RNA 1 IAGP ClinVar Annotator: match by term: Meconium ileus ClinVar PMID:4006357 PMID:22521417 PMID:25741868 PMID:28492532 PMID:33223529 NCBI chr12:14,665,636...14,736,219 JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:586 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO ORPHA:586 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO ORPHA:586 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:586 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G PLBD1-AS1 PLBD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Meconium ileus ClinVar PMID:25370039 NCBI chr12:14,567,732...14,619,755
Ensembl chr12:14,567,393...14,624,191 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO ORPHA:586 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP HPO ORPHA:586 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO OMIM:617239 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC26A9 solute carrier family 26 member 9 IAGP HPO ORPHA:586 NCBI chr 1:205,913,052...205,943,456
Ensembl chr 1:205,913,048...205,943,460 		JBrowse link
G SLC6A14 solute carrier family 6 member 14 IAGP HPO ORPHA:586 NCBI chr  X:116,436,606...116,461,458
Ensembl chr  X:116,436,606...116,461,458 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP HPO ORPHA:586 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:586 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:219700 ORPHA:586 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
Paralytic ileus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC5 actin related protein 2/3 complex subunit 5 IAGP HPO OMIM:620565 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO OMIM:276700 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO OMIM:176000 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO OMIM:613559 ORPHA:254930 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the digestive system 4683
        Abnormality of the gastrointestinal tract 3350
          Abnormal gastrointestinal tract morphology 1624
            Abnormal intestine morphology 1284
              Intestinal obstruction 89
                High intestinal obstruction 0
                Ileus + 37
                Neonatal intestinal obstruction 0
paths to the root