Search Ontology:
Human Disease
homocystinuria
- Term ID
- DOID:9263
- Synonyms
-
- CBS deficiency
- cystathionine beta synthase deficiency
- cystathionine synthase deficiency
- 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
- References
-
- GARD:10770
- ICD10CM:E72.11
- MESH:D006712
- Ontology
- Human Disease ( DOID:9263 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models