search

obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
Other
292 stars 51 forks source link

NTR: beta-glucuronidase high in blood (Lab: blood chemistry: enzymes) #8235

Closed pnrobinson closed 4 months ago

pnrobinson commented 1 year ago

New term request beta-glucuronidase high in blood (elthat_190712173759): UMLS: 5195139

pnrobinson commented 7 months ago

@MickeySegal is this enzyme typically measured in blood/serum? In MPS it is measured in fibroblasts or leukocytes https://omim.org/entry/253220

MickeySegal commented 7 months ago

https://www.omim.org/clinicalSynopsis/618392 "Elevated beta-glucuronidase"

and in the main article for the disease https://www.omim.org/entry/618392 "Elevated levels of blood lysosomal enzymes have also been observed"

pnrobinson commented 4 months ago

@MickeySegal Adding new term: