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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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Optic nerve coloboma HP:0000588 #6807

Closed kanems closed 3 years ago

kanems commented 3 years ago

I am wondering about the synonyms on Optic nerve coloboma HP:0000588 Is "Optic disk[disc] coloboma" truly synonymous with optic nerve coloboma? If not, this may be contributing to UMLS mixing the nerve/disc concepts on the same CUI (Coloboma of optic disc C0155299)

pnrobinson commented 3 years ago

"The optic disc represents the beginning of the optic nerve and is the point where the axons of retinal ganglion cells come together. The optic disc is also the entry point for the major blood vessels that supply the retina." So I think that in terms of fundoscopy they are the same. I am not sure if it is possible to have an optic nerve coloboma that does not manifest in the optic disc @psergouniotis -- could you advise please?

pnrobinson commented 3 years ago

I had a look at this and I think that clinically one does not distinguish between these two phrases, see https://en.wikipedia.org/wiki/Coloboma_of_optic_nerve and https://www.ncbi.nlm.nih.gov/books/NBK532877/. Therefore, I think we can maintain the current synonyms.

psergouniotis commented 3 years ago

hi. sorry for the late reply. I agree that those should be synonyms. Given the UMLS approach, I think the primary term for HP:0000588 should be "Optic disc coloboma" with "optic nerve coloboma" as a synonym. many thanks

pnrobinson commented 3 years ago

thanks, I made Optic disc coloboma the preferred label as recommended