homocystinuria (DOID:9263)
Alliance: disease page
Synonyms: CBS deficiency; cystathionine beta synthase deficiency; cystathionine synthase deficiency
Alt IDs: OMIM:236200, OMIM:236250, ICD10CM:E72.11, MESH:D006712, NCI:C84765, ORDO:394, UMLS_CUI:C0019880
Definition: An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.