Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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