homogentisic aciduria - Ontology Report - Rat Genome Database

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MAMMALIAN PHENOTYPE - ANNOTATIONS	{{ watchLinkText }}
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.

Term:	homogentisic aciduria	go back to main search page
Accession:	MP:0030619	browse the term
Definition:	excretion of excessive amounts of homogentisic acid (an intermediate in the tyrosine degradation pathway) and its oxidized form (benzoquinoneacetate) in the urine, giving it an unusually dark color on prolonged exposure to air
Comment:	Homogentisic aciduria is one of the three distinct clinical features of alkaptonuria (AKU), along with ochronosis and ochronotic osteoarthropathy; the darkening of urine occurs because the HGA pigment oxidizes to benzoquinoneacetate (BQA), which forms a melanin-like polymer that slowly turns urine black {xref="PMID:8188247", xref="PMID:25003018"}
Synonyms:	exact_synonym:	increased urine homogentisic acid level

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Path 1
Term	Annotations
mammalian phenotype	5380
renal/urinary system phenotype	640
abnormal renal/urinary system physiology	469
abnormal urine homeostasis	374
aciduria	3
homogentisic aciduria	0

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