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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Biotin supplementation positive test response #4800

Closed pnrobinson closed 5 years ago

pnrobinson commented 5 years ago

@MickeySegal -- can you provide background/definition?

MickeySegal commented 5 years ago

https://www.ncbi.nlm.nih.gov/books/NBK1322/

The activities of the carboxylases in fibroblasts of individuals with holocarboxylase synthetase deficiency become near-normal to normal when cultured in medium supplemented with biotin (high biotin).

We had the cost listed as too low so this was included even though the list I sent wasn't intended at this stage to include lab tests.

pnrobinson commented 5 years ago

@MickeySegal Would you agree with this label? Otherwise the label does not really match what is happening, I think. Positive carboxylase test response to biotin supplementation or perhaps even better Positive holocarboxylase synthetase response to biotin supplementation

pnrobinson commented 5 years ago

@MickeySegal any update on this?

MickeySegal commented 5 years ago

We use "Positive holocarboxylase synthetase response to biotin supplementation".

If you are assigning an HPO term we will use it, but we have a list of a few thousand lab terms we could provide but were holding that for another stage and had included this with our clinical list because we had erroneously listed the cost as one for a clinical finding.

pnrobinson commented 5 years ago

@MickeySegal -- OK. I think we would love to add more lab tests to HPO in the future. Perhaps it is best to close this issue for now, and then to systematically go through the lab tests. Perhaps this approach is also interesting for your software (https://github.com/data2health/ehr2HPO.prj) and if you do see any areas of synergy we should talk. I will close this item for now.