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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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Gelatinous drop-like corneal dystrophy #9661

Closed carolina-f closed 4 months ago

carolina-f commented 1 year ago

Hello; searching for clinical signs and symptoms of "ORPHA 98957 Gelatinous drop-like corneal dystrophy" I found "foreign body sensation" as a frequent symptom, however I don't find any similar term in the ontology, I'm rigth? Do I have to ask it as a new term?

pnrobinson commented 1 year ago

@carolina-f I think this would be good as a term underneath Corneal dystrophy HP:0001131

One problem with the current HPO is that "Corneal dystrophy" is a disease characterized by a certain kind of corneal opacity as well as other manifestations such as photophobia and reduced visual acuity. There does not seem to be a word for the specific corneal manifestation of the corneal dystrophy. I think therefore that we should call it

Gelatinous drop-like dystrophic cornea to specific the phenotypic finding. ORDO would likely have a disease term called Gelatinous drop-like corneal dystrophy that would be annotated to the HPO terms Gelatinous drop-like dystrophic cornea Photophobia Reduced visual acuity etc.

Does this make sense?

Here is how I would define the term

Gelatinous drop-like dystrophic cornea Def: Deposition of amyloid material in the subepithelial space of the cornea Comment: See Figure 2 in PMID: 23038033

@Sukram

carolina-f commented 1 year ago

Hello Peter, The proposed term Gelatinous drop-like dystrophic cornea seems fine to me. However, I did not write to ask for a new term for the disease, but only to ask if there was not already a term for the foreign body sensation that they describe among their symptoms. Not having an answer after a while, I decided to request the new term that was accepted HP:0034804 as Corneal foreign body sensation.

pnrobinson commented 4 months ago

@carolina-f Adding new term: