| 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 |
SNOMEDCT_US_2023_03_01:24250001 |
| Alternateids |
DOID:0050714 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
alcaptonuria [EXACT] deficiency of homogentisicase [RELATED] Homogentisate 1,2-dioxygenase deficiency [EXACT] |
| Parent Relationships |