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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: Corneal biopsy: disorganized collagen fibrils on transmission electron microscopy (Lab: pathology: biopsies & morphology) #9182

Closed pnrobinson closed 2 months ago

pnrobinson commented 1 year ago

New term request Corneal biopsy: disorganized collagen fibrils on transmission electron microscopy (elthat_100826013922):

pnrobinson commented 5 months ago

@MickeySegal is this related to a corneal endothelial dystrophy, or what is the clinical context?

MickeySegal commented 5 months ago

https://www.ncbi.nlm.nih.gov/books/NBK2690/ "Corneal transparency requires that collagen fibrils be properly organized with a uniform diameter and a regular interfibrillar space. Congenital stromal corneal dystrophy (CSCD) is characterized by stromal opacities throughout the cornea. By transmission electron microscopy these opacities are seen as layers of amorphous material with thin filaments. The reported DCN pathogenic variants all lead to formation of a truncated decorin that has a tendency to aggregate in vitro."

pnrobinson commented 2 months ago

@MickeySegal The cited article states this: "Areas of amorphous substance with small filaments disrupted layers of apparently normal collagen fibrils. These areas were often located in the immediate vicinity of keratocytes. In some places, the lamellar structure of collagen fibrils appeared to disintegrate". There seems to be some mix up or am I misunderstanding?

MickeySegal commented 2 months ago

I don't see that quote in https://www.ncbi.nlm.nih.gov/books/NBK2690/ but it seems consistent with the quote I provided.

pnrobinson commented 2 months ago

@MickeySegal what I mean is that this description is for electron microcroscopy that was done during a research study and is unlikely to be used in the clinics, where this description would work "HP:0007759 Opacification of the corneal stroma". It is hard to make an HPO from a "narrative description" like that since future users would not have a clear way to decide if the term applies.

MickeySegal commented 2 months ago

We already have HP:0007759 so if you think that "disorganized collagen fibrils on transmission electron microscopy" we can delete it. We only have it for https://omim.org/entry/610048