NTR: Neuraminidase 1 low in fibroblasts or leukocytes (Lab: blood chemistry: enzymes: leukocyte)

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:

ID: HP:6000911
label: Reduced tissue neuraminidase activity
parents: Abnormal tissue enzyme concentration or activity (HP:6000231)
pmid: PMID:610423
def: Activity of neuraminidase (EC 3.2.1.18)in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. Neuraminidase is also known as lysosomal sialidase.
comment:
orcid: orcid:0000-0002-0736-9199
github ID: https://github.com/obophenotype/human-phenotype-ontology/issues/8133
synonyms:

obophenotype / human-phenotype-ontology