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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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porous iris #9766

Closed MickeySegal closed 4 months ago

MickeySegal commented 1 year ago

Preferred term label: Porous iris This may be related to HP:0011523 or HP:0500007 but does not seem to be included in those existing terms.

Synonyms

Definition (free text, please give PubMed ID)

Parent term (use hpo.jax.org/app)

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) Oculodentodigital dysplasia (Smith's Malformation textbook describes "fine porous iris")

Your nano-attribution (ORCID)

pnrobinson commented 6 months ago

@MickeySegal I am wondering if you have a picture or a more detailed definition. The only thing I can find is "fine porous spongy iris abnormalities" from https://www.cell.com/ajhg/fulltext/S0002-9297(07)60549-7?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0002929707605497%3Fshowall%3Dtrue but this is not really useful because as far as I can see subsequent articles did not note this and it is unclear exactly how an ophthalmologist would recognize this finding.

MickeySegal commented 6 months ago

All I could find other than Smith is https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869463/ "Ophthalmic findings include microphthalmia, microcornea, fine porous spongy iris abnormalities, cataracts, glaucoma and optic atrophy" and the original PDF of the Parashari et al. reference linked at https://www.ajol.info/index.php/sajr/article/view/73485 just says "Common ocular features with this condition are microphthalmia, microcornea, fine porous spongy iris abnormalities, cataracts, glaucoma, optic atrophy and other eye abnormalities that can lead to vision loss."

It may be best to delete the finding.

pnrobinson commented 4 months ago

Let's delete.