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Disease Ontology Browser
alkaptonuria (DOID:9270)
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 (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/11/2017
MGI 6.08
The Jackson Laboratory