NTR: PiMZ type of alpha1 antitrypsin in blood (Lab: serology & immunological tests)

obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features

http://obophenotype.github.io/human-phenotype-ontology/

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NTR: PiMZ type of alpha1 antitrypsin in blood (Lab: serology & immunological tests) #8727

Closed pnrobinson closed 7 months ago

pnrobinson commented 1 year ago

New term request PiMZ type of alpha1 antitrypsin in blood (elthat_100612193206): Protease inhibitor UMLS: 0428501

pnrobinson commented 8 months ago

@MickeySegal same question as https://github.com/obophenotype/human-phenotype-ontology/issues/8726

MickeySegal commented 8 months ago

You are right. That was old terminology, still used widely in the 2023 GeneReview article https://www.ncbi.nlm.nih.gov/books/NBK1519/ but it makes more sense to instead discuss zygosity of SERPINA1 variants. I will delete our finding.