obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: Collagen type VI synthesis by fibroblasts abnormal in vitro (Lab: pathology: biopsies & morphology) #9227

Closed pnrobinson closed 7 months ago

pnrobinson commented 1 year ago

New term request Collagen type VI synthesis by fibroblasts abnormal in vitro (perlma_110328040952): UMLS: 2749505

pnrobinson commented 7 months ago

@MickeySegal I cannot find mentions of this as a regularly used diagnostic assay, even on the boundary between research and diagnostics; the articles that come up in searches are all over 30 years old. I would suggest we not make a term for this now, but as always if I am wrong please just let me know!

MickeySegal commented 6 months ago

https://www.ncbi.nlm.nih.gov/books/NBK1503/ "Immunocytochemical analysis of collagen VI in dermal fibroblast cultures can demonstrate decreased and/or abnormal-appearing collagen VI extracellular matrix deposition ... Collagen VI immunocytochemical studies in dermal fibroblasts in COL6-RD A. The normal control with collagen VI labeling with antibody demonstrates an abundance of well-organized collagen VI microfibrils in a linear, unidirectional trend"