homocystinuria

created [InstanceEdit:5683328] Jassal, Bijay, 2015-03-13
databaseName DOID
dbId 5683327
definition An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
displayName homocystinuria
identifier 9263
name
  • homocystinuria
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • cystathionine beta synthase deficiency
  • cystathionine synthase deficiency
  • Homocystinuria (disorder)
  • CBS deficiency
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:9263
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