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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: Matrix metalloproteinase 2 enzyme activity low in blood or fibroblasts (Lab: blood chemistry) #8394

Closed pnrobinson closed 1 year ago

pnrobinson commented 1 year ago

New term request Matrix metalloproteinase 2 enzyme activity low in blood or fibroblasts (elthat_160722074955): MMP2

pnrobinson commented 1 year ago

@MickeySegal I think the serum assay is a (rarely used) clinical assay while the fibroblast assay is probably research only. For now I am making a term for the serum assay, please add another issue if you require the fibroblast version. Also the clinical assay is concentration rather than activity (which again I think is more of a research-only assay).

added as HP:0034615 Reduced circulating matrix metalloproteinase 2 concentration

MickeySegal commented 1 year ago

https://www.ncbi.nlm.nih.gov/books/NBK373578/ "The diagnosis of MONA is established in a proband with characteristic clinical and radiographic findings and either biallelic pathogenic variants in MMP2 or decreased activity of the enzyme matrix metalloproteinase 2.... Analysis of matrix metalloproteinase 2 enzyme activity can be performed by the electrophoretic technique gelatin zymography on body fluids and/or cell or tissue extracts".

This makes it sound like the assay is used clinically, and activity seems to be the proper term.