obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: Neuraminidase 1 low in fibroblasts or leukocytes (Lab: blood chemistry: enzymes: leukocyte) #8133

Closed pnrobinson closed 4 months ago

pnrobinson commented 1 year ago

New term request Neuraminidase 1 low in fibroblasts or leukocytes (f387): alpha neuraminidase

pnrobinson commented 4 months ago

@MickeySegal I think the enzyme activity that is measured is just Neuraminidase (not "1") https://enzyme.expasy.org/EC/3.2.1.18 What is the context?

MickeySegal commented 4 months ago

OMIM indicates that these are the same thing, but currently uses the form without the number: https://omim.org/entry/256550. but the gene still has the number: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7758

pnrobinson commented 4 months ago

@MickeySegal

Adding new term: