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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:Cutaneous abscess
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Accession:HP:0031292 term browser browse the term
Definition:A circumscribed area of pus or necrotic debris in the skin.
Synonyms:exact_synonym: Skin abscess



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Cutaneous abscess term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO OMIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP HPO OMIM:243700 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP HPO OMIM:618204 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO OMIM:613953 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
JBrowse link
G IL6R interleukin 6 receptor IAGP HPO OMIM:618944 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:619752 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G MPEG1 macrophage expressed 1 IAGP HPO OMIM:619223 NCBI chr11:59,208,510...59,212,927
Ensembl chr11:59,208,510...59,212,927
JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP HPO OMIM:619986 NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850
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 STAT3 signal transducer and activator of transcription 3 IAGP HPO OMIM:147060 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G ZNF341 zinc finger protein 341 IAGP HPO OMIM:618282 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269
JBrowse link
Perianal abscess term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO OMIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP HPO OMIM:301074 NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716
JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO OMIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151
JBrowse link
G IKZF3 IKAROS family zinc finger 3 IAGP HPO OMIM:619437 NCBI chr17:39,757,715...39,864,312
Ensembl chr17:39,757,718...39,864,312
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 IL10RB interleukin 10 receptor subunit beta IAGP HPO OMIM:612567 NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420
JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO OMIM:176450 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663
JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP HPO OMIM:618108 NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:618213 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
Recurrent cutaneous abscess formation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase IAGP HPO ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO OMIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
JBrowse link
G CTSC cathepsin C IAGP HPO ORPHA:678 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP DNA:mutations: : RGD PMID:25724123 RGD:40886274 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
JBrowse link
G LCP2 lymphocyte cytosolic protein 2 IAGP HPO OMIM:619374 NCBI chr 5:170,246,233...170,297,777
Ensembl chr 5:170,246,233...170,297,815
JBrowse link
G PSEN1 presenilin 1 IAGP HPO OMIM:613737 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP HPO OMIM:613736 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO OMIM:147060 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the immune system 2710
        Abnormal immune system morphology 807
          Abscess 74
            Cutaneous abscess 29
              Perianal abscess 10
              Pilonidal abscess 0
              Recurrent cutaneous abscess formation 11
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the immune system 2710
        Abnormality of immune system physiology 2279
          Abnormal inflammatory response 1374
            Increased inflammatory response 1347
              Inflammatory abnormality of the skin 522
                Cutaneous abscess 29
                  Perianal abscess 10
                  Pilonidal abscess 0
                  Recurrent cutaneous abscess formation 11
paths to the root