DISEASES

Disease-gene associations mined from literature

Human genes for alkaptonuria

Alkaptonuria [DOID:9270]

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

Synonyms:  alkaptonuria,  DOID:9270,  alkaptonurias,  Homogentisate 1,2-dioxygenase deficiency,  alcaptonuria ...

Linkouts:  OMIM