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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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NTR: Long-chain 3-oxoacyl-CoA thiolase activity low in fibroblasts (Lab: pathology: biopsies & morphology) #9103

Closed pnrobinson closed 3 months ago

pnrobinson commented 1 year ago

New term request Long-chain 3-oxoacyl-CoA thiolase activity low in fibroblasts (segal_071121192022): UMLS: 2675272

pnrobinson commented 1 year ago

@MickeySegal Not sure what enzyme this is. Do we mean this: https://www.uniprot.org/uniprotkb/Q8NCW8/entry or Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency (https://pubmed.ncbi.nlm.nih.gov/2882519/) or ?

MickeySegal commented 1 year ago

The paper is from 1987, and it is unclear how it maps onto current understanding of disease, so it might be better to go by https://www.omim.org/entry/609015 which refers to "long-chain 3-oxoacyl-CoA thiolase" and is the origin of our finding name.

pnrobinson commented 1 year ago

see https://pubmed.ncbi.nlm.nih.gov/35782614/

MickeySegal commented 1 year ago

We are both referring to the same condition. I added "long-chain 3-keto-acyl CoA thiolase (LCKAT) deficiency" as a synonym to our entry for https://omim.org/entry/609015.

pnrobinson commented 3 months ago

I am coding this as https://enzyme.expasy.org/EC/2.3.1.16, with accepted name acetyl-CoA C-acyltransferase, synonyms 3-ketoacyl-CoA thiolase, beta-ketothiolase reaction acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA

pnrobinson commented 3 months ago

@MickeySegal Adding new term: