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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: Glycogen brancher enzyme activity low in skin fibroblast (Lab: pathology: biopsies & morphology) #9113

Closed pnrobinson closed 3 months ago

pnrobinson commented 1 year ago

New term request Glycogen brancher enzyme activity low in skin fibroblast (segal_090511164419): GBE; Amylo(1,4 - 1,6) transglucosidase deficiency UMLS: 1856314

pnrobinson commented 1 year ago

@MickeySegal do we mean Glycogen branching (not brancher) enzyme? https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581599/

MickeySegal commented 1 year ago

Both names have been in use, but branching seems to be the preferred form now.

I switched in our term name and included brancher as a synonym.

pnrobinson commented 1 year ago

Looking here, this phenotype can be measured in many tissues including blood. https://omim.org/entry/232500 Fibrblasts do not seem to be the most relevant tissue pathophysiologically. Maybe a blood/general term would do it?

MickeySegal commented 1 year ago

https://www.ncbi.nlm.nih.gov/books/NBK115333/ "The diagnosis is confirmed by the demonstration of glycogen branching enzyme (GBE) deficiency in liver, muscle, or skin fibroblasts [Brown & Brown 1983], and/or the identification of biallelic pathogenic variants in GBE1."

So fibroblasts do seem relevant, but a more general term would be fine.

pnrobinson commented 3 months ago

@MickeySegal Adding new term: