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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: Small intestine biopsy: cystine crystals (Lab: pathology: biopsies & morphology) #9135

Open pnrobinson opened 1 year ago

pnrobinson commented 1 year ago

New term request Small intestine biopsy: cystine crystals (elthat_100520034749): Bowel; intestinal

pnrobinson commented 1 month ago

@MickeySegal

this seems a very rare manifestation and small intestinal biopsy is probably rarely if ever used in cystinosis. Can you provide more context?

MickeySegal commented 1 month ago

The context is https://www.ncbi.nlm.nih.gov/books/NBK1400/ "cystine accumulation occurs in virtually all organs and tissues, including bone marrow, liver, intestine, muscle, brain, spleen, eye, thyroid, pancreas, and testes"

But I agree that this is unlikely to be done and I deleted the finding.

I see that you did add HP:6001033 Bone marrow cystine accumulation

We also have "Liver biopsy: cystine crystals" and should decide whether to keep that.