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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: Arylsulfatase A low in fibroblasts, lysosomal (Lab: blood chemistry: enzymes: leukocyte) #8123

Closed pnrobinson closed 1 year ago

pnrobinson commented 1 year ago

New term request Arylsulfatase A low in fibroblasts, lysosomal (f375):

pnrobinson commented 1 year ago

@MickeySegal

adding as Reduced leukocyte arylsulfatase A activity HP:0034863

MickeySegal commented 1 year ago

We have a different finding for leukocytes: segal_090522134230 "Arylsulfatase A low in leukocytes, lysosomal". This was meant to be for fibroblasts, which from https://omim.org/entry/250100 sound like the fibroblast test is in use.