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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:Fetal megacystis
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Accession:HP:0010956 term browser browse the term
Definition:Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.
Comment:Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction.
Synonyms:exact_synonym: Foetal megacystis
 xref: MESH:C536139;   UMLS:C2931117


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Fetal megacystis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXF1 forkhead box F1 IAGP ClinVar Annotator: match by term: Fetal megacystis ClinVar PMID:25741868 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G LMOD1 leiomodin 1 IAGP HPO OMIM:619362 NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO OMIM:619351 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028 		JBrowse link
G MYLK myosin light chain kinase IAGP HPO OMIM:249210 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G MYOCD myocardin IAGP HPO OMIM:618719 NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949 		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 bladder 543
              Abnormal bladder morphology 85
                Dilatation of the bladder 12
                  Fetal megacystis 5
paths to the root