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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: Conjunctival biopsy: multilamellar bodies in epithelial and endothelial cells (Lab: pathology: biopsies & morphology) #9238

Closed pnrobinson closed 6 months ago

pnrobinson commented 1 year ago

New term request Conjunctival biopsy: multilamellar bodies in epithelial and endothelial cells (segal_110421154829): UMLS: 3277222

pnrobinson commented 9 months ago

@MickeySegal can you provide more context and/or a definition please?

MickeySegal commented 9 months ago

https://jamanetwork.com/journals/jamaophthalmology/fullarticle/269152

Identification of characteristic fibrillogranular and multilamellar inclusions in conjunctival biopsy specimens is considered diagnostic of [Mucolipidosis IV]

It is possible that such testing is no longer done.

pnrobinson commented 6 months ago

This finding was obtained by Transmission electron microscopy in the paper (2002), and I cannot find more references, so I am guessing this is not a current clinical test and thus unlikely to be a good HPO term