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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:Esophagitis
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Accession:HP:0100633 term browser browse the term
Definition:Inflammation of the esophagus.
Synonyms:exact_synonym: Inflammation of the esophagus;   Inflammation of the oesophagus;   Oesophagitis
 xref: MEDDRA:10030216 "Oesophagitis";   SNOMEDCT_US:16761005;   UMLS:C0014868


show annotations for term's descendants           Sort by:
Esophagitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO ORPHA:1901 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO ORPHA:1901 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP HPO ORPHA:3197 NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:198 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G CARD8 caspase recruitment domain family member 8 IAGP HPO MIM:619079 NCBI chr19:48,203,148...48,255,946
Ensembl chr19:48,180,770...48,255,946 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO MIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP HPO MIM:301074 NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G GLRA1 glycine receptor alpha 1 IAGP HPO ORPHA:3197 NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851 		JBrowse link
G GLRB glycine receptor beta IAGP HPO ORPHA:3197 NCBI chr 4:157,076,150...157,172,090
Ensembl chr 4:157,076,125...157,172,090 		JBrowse link
G GPHN gephyrin IAGP HPO ORPHA:3197 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G GRB10 growth factor receptor bound protein 10 IAGP HPO ORPHA:96182 NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462 		JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 IAGP HPO ORPHA:541423 NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MEN1 menin 1 IAGP HPO MIM:131100 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO MIM:619350 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO ORPHA:79351 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PSPH phosphoserine phosphatase IAGP HPO ORPHA:79350 NCBI chr 7:56,011,064...56,051,444
Ensembl chr 7:56,011,051...56,051,604 		JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP HPO MIM:619652 NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO MIM:612562 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC6A5 solute carrier family 6 member 5 IAGP HPO ORPHA:3197 NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:2896 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO MIM:615356 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
Eosinophilic infiltration of the esophagus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK8 dedicator of cytokinesis 8 IAGP HPO MIM:243700 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G DSG1 desmoglein 1 IAGP HPO MIM:615508 NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO MIM:613795 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO MIM:147060 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP HPO MIM:620532 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:618213 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO MIM:614816 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO MIM:615582 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO MIM:609192 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO MIM:610168 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74025
    Phenotypic abnormality 73720
      Abnormality of the digestive system 10591
        Abnormality of the gastrointestinal tract 7672
          Abnormal gastrointestinal tract morphology 4649
            Abnormal esophagus morphology 642
              Esophagitis 160
                Eosinophilic infiltration of the esophagus 133
                Eosinophilic microabscess formation in the esophagus 0
Path 2
Term Annotations click to browse term
  Human phenotype 74025
    Phenotypic abnormality 73720
      Abnormality of the immune system 10733
        Abnormality of immune system physiology 8021
          Abnormal inflammatory response 5905
            Increased inflammatory response 5878
              Gastrointestinal inflammation 2924
                Esophagitis 160
                  Eosinophilic infiltration of the esophagus 133
                  Eosinophilic microabscess formation in the esophagus 0
paths to the root