Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023

Preferred Name	Increased urinary porphobilinogen
Definitions	Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis. The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.
ID	http://purl.obolibrary.org/obo/HP_0012217
comment	Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis.
creation_date	2013-03-30T06:45:01Z
creator	https://orcid.org/0000-0002-0736-9199
database_cross_reference	UMLS:C4023000
definition	The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.
has_obo_namespace	human_phenotype
id	HP:0012217
label	Increased urinary porphobilinogen
notation	HP:0012217
prefLabel	Increased urinary porphobilinogen
treeView	http://purl.obolibrary.org/obo/HP_0003215
subClassOf	http://purl.obolibrary.org/obo/HP_0003215

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