| Metadata | |
|---|---|
| ID | DOID:9263 |
| Name | homocystinuria |
| Definition | An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. http://en.wikipedia.org/wiki/Homocystinuria |
| Xrefs |
SNOMEDCT_US_2023_03_01:190709008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CBS deficiency [EXACT] cystathionine beta synthase deficiency [EXACT] cystathionine synthase deficiency [EXACT] |
| Parent Relationships |