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Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: Methylhex-enedioic acid high in urine (Lab: chemistry: organic acids) #8649

Closed pnrobinson closed 6 months ago

pnrobinson commented 1 year ago

New term request Methylhex-enedioic acid high in urine (elthat_200509174859):

pnrobinson commented 7 months ago

@MickeySegal I see this is related to squalene synthetase deficiency (https://www.ncbi.nlm.nih.gov/books/NBK553533/), but I cannot place the chemical. Do you know?

MickeySegal commented 7 months ago

That is the only place we found this.

pnrobinson commented 6 months ago

I think that this is not a good HPO then, because there is no clear definition that would allow users to annotate with this going prospectively. Possibly this is a mistake or a non-standard description in the article.

MickeySegal commented 6 months ago

NIST thinks the chemical exists: https://webbook.nist.gov/cgi/inchi?ID=R249320&Units=SI

Urine organic acids people seem to be able to look for such chemicals: https://www.sciencedirect.com/science/article/pii/S0002929718301654 Urine organic acid GC-MS profiles of individual 1 (top) and a control subject (bottom). Normal urine components are indicated in italics. Numbered peaks indicate abnormal metabolites: (1) methylsuccinic, (2) mevalonic lactone, (3) mesaconic acid, (4) 2-methylgluatic acid, (5) 3-methyladipic acid, (6) 3-methylhex-3-enedioic acid, (7) 3-methylhex-2-endioic acid, (8) 2,6-dimethylheptanedioic acid, (9) unknown, (10) 3-methylhex-2,4-dienedioic, (11) 2,6-dimethylhept-2-enedioic acid, (12) 3,7-dimethyloctanedioic, and (13) 3,7-dimethyl-2,6-dienedioic.