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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: Galactocerebrosidase low in leukocytes or fibroblasts (Lab: blood chemistry: enzymes: leukocyte) #8134

Closed pnrobinson closed 4 months ago

pnrobinson commented 1 year ago

New term request Galactocerebrosidase low in leukocytes or fibroblasts (f389): Galactosylceramidase; GALC enzyme UMLS: 2673270

pnrobinson commented 4 months ago

@MickeySegal I think that this is Krabbe disease. The activity of the enyzme is measured in many places including serum fibroblasts and leukocytes. I am adding the latter two as synonyms to the existing term

Reduced galactocerebrosidase activity HP:0034322

MickeySegal commented 4 months ago

I think we did this already - I have that HPO number.