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
Ontology
Human Disease   ( DOID:9263 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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