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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: Porphobilinogen deaminase activity low in erythrocytes (Lab: blood chemistry: enzymes) #8160

Closed pnrobinson closed 1 year ago

pnrobinson commented 1 year ago

New term request Porphobilinogen deaminase activity low in erythrocytes (f419): Hydroxymethylbilane synthase, HMBS, PBGD; RBCs, red blood cells UMLS: 1867973

pnrobinson commented 1 year ago

@MickeySegal adding as HP:4000199 Reduced erythrocyte porphobilinogen deaminase activity