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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 hypospadias
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Accession:HP:0000051 term browser browse the term
Definition:Hypospadias with location of the urethral meatus in the perineal region.
Synonyms:xref: SNOMEDCT_US:204890004;   UMLS:C0452148


show annotations for term's descendants           Sort by:
Perineal hypospadias term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor IAGP HPO OMIM:300633 OMIM:312300 ORPHA:90797 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP HPO ORPHA:66634 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO OMIM:615542 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP HPO OMIM:201810 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 IAGP HPO OMIM:264600 ORPHA:753 NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the genitourinary system 4407
        Abnormality of the urinary system 2338
          Abnormality of the lower urinary tract 884
            Abnormality of the urethra 461
              Displacement of the urethral meatus 392
                Hypospadias 370
                  Perineal hypospadias 5
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the genitourinary system 4407
        Abnormality of the genital system 3236
          Abnormal reproductive system morphology 2500
            Abnormal external genitalia 1226
              Abnormal male external genitalia morphology 1178
                Abnormal penis morphology 679
                  Abnormal male urethral meatus morphology 394
                    Displacement of the urethral meatus 392
                      Hypospadias 370
                        Perineal hypospadias 5
paths to the root