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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: Skin biopsy: lamellar bodies absent (Lab: pathology: biopsies & morphology) #9273

Closed pnrobinson closed 1 year ago

pnrobinson commented 1 year ago

New term request Skin biopsy: lamellar bodies absent (elthat_120826110234):

pnrobinson commented 1 year ago

@MickeySegal What is the disease context? I guess we are talking about epidermal lamellar bodies?

MickeySegal commented 1 year ago

https://www.ncbi.nlm.nih.gov/books/NBK1420/ "Harlequin ichthyosis is characterized by extreme hyperkeratosis and follicular plugging. Electron microscopy shows absence of lamellar bodies and lipid bilayers."

pnrobinson commented 1 year ago

@MickeySegal adding as Absence of epidermal lamellar bodies HP:0034840