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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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Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 IAGP HPO MIM:614662 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
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  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the endocrine system 4618
        Abnormal urine hormone level 19
          Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio 1
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