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Disease Ontology Browser
alkaptonuria (DOID:9270)
Alliance: disease page
Synonyms: alcaptonuria; deficiency of homogentisicase; Homogentisate 1,2-dioxygenase deficiency
Alt IDs: OMIM:203500, DOID:0050714, ICD10CM:E70.29, MESH:D000474, NCI:C84546, ORDO:56, UMLS_CUI:C0002066
Definition: An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory