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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: Glycylproline high in blood (Lab: chemistry: amino compounds) #8551

Closed pnrobinson closed 10 months ago

pnrobinson commented 1 year ago

New term request Glycylproline high in blood (elthat_111113012436):

pnrobinson commented 1 year ago

@MickeySegal am I correct this should be a child of Abnormal circulating collagen degradation product concentration HP:0033386 with label: Elevated circulating glycylproline concentration definition: Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9).

This is a feature of

Prolidase deficiency (OMIM:170100)

MickeySegal commented 1 year ago

We do have this for prolidase deficiency. BTW, https://omim.org/entry/170100 uses glycyl-L-proline and glycylproline interchangeably so it makes sense to include both.

pnrobinson commented 10 months ago

@MickeySegal Adding new term: