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Summary Literature (0)
DOID:9270 - alkaptonuria

Disease Ontology Definition:An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.

Synonyms: Homogentisate 1,2-dioxygenase deficiency, alcaptonuria, deficiency of homogentisicase,

Xenbase Genes : hgd

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008753 - alkaptonuria


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a)