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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:Perineal fistula
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Accession:HP:0004871 term browser browse the term
Definition:The presence of a fistula between the bowel and the perineum.
Comment:The perineum is the diamond-shaped region of the body between the pubic arch and the anus.
Synonyms:xref: SNOMEDCT_US:284077005;   UMLS:C0561921



show annotations for term's descendants           Sort by:
Perineal fistula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:2753 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
Anoperineal fistula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP OMIM:615607 HPO NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161
JBrowse link
G ELF4 E74 like ETS transcription factor 4 IAGP OMIM:301074 HPO NCBI chr  X:130,063,955...130,111,927
Ensembl chr  X:130,063,955...130,110,716
JBrowse link
G KDM6A lysine demethylase 6A IAGP OMIM:147920 HPO NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP OMIM:147920 HPO NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G PKP1 plakophilin 1 IAGP ORPHA:158668 HPO NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
JBrowse link
G SYK spleen associated tyrosine kinase IAGP OMIM:619381 HPO NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP OMIM:618213 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
Rectoperineal fistula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK8 cyclin dependent kinase 8 IAGP OMIM:618748 HPO NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982
JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP ORPHA:857 HPO NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 ORPHA:857 HPO NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of the genitourinary system 3946
        Urogenital fistula 52
          Perineal fistula 12
            Anoperineal fistula 7
            Rectoperineal fistula 3
paths to the root