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Metadata
ID DOID:9270
Name alkaptonuria
Definition An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
http://en.wikipedia.org/wiki/Alkaptonuria
Xrefs

GARD:5775

ICD10CM:E70.29

MESH:D000474

NCI:C84546

OMIM:203500

ORDO:56

SNOMEDCT_US_2018_03_01:24250001

UMLS_CUI:C0002066

Alternateids

DOID:0050714

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

alcaptonuria [EXACT]

deficiency of homogentisicase [RELATED]

Homogentisate 1,2-dioxygenase deficiency [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

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