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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:Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio
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Accession:HP:6001080 term browser browse the term
Definition:Abnormally low ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE).
Comment:In cortisone reductase deficiency-2, the ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE), which in CORTRD patients is typically less than 0.1 (reference range, 0.7 to 1.2).

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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the endocrine system 0
        Abnormal urine hormone level 0
          Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio 0
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