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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: Fucosylated N-glycans absent in blood (Lab: blood chemistry) #8414

Closed pnrobinson closed 7 months ago

pnrobinson commented 1 year ago

New term request Fucosylated N-glycans absent in blood (elthat_180909083125): UMLS: 4693907

pnrobinson commented 7 months ago

@MickeySegal can you provide the disease context?

MickeySegal commented 7 months ago

https://www.omim.org/entry/618005 "Serum of all 3 patients showed complete loss of total core fucosylated N-glycans compared to controls"

pnrobinson commented 7 months ago

@MickeySegal Decreased fucosylation of N-linked protein glycosylation HP:0012353