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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:Nephronophthisis
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Accession:HP:0000090 term browser browse the term
Definition:Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
Comment:Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli.
Synonyms:exact_synonym: juvenile nephronophthisis
 alt_id: HP:0004748
 xref: SNOMEDCT_US:204958008;   UMLS:C0687120


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the genitourinary system 0
        Abnormality of the urinary system 0
          Abnormality of the upper urinary tract 0
            Abnormality of the kidney 0
              Abnormal renal morphology 0
                Abnormal renal medulla morphology 0
                  Nephronophthisis 0
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