Ontological Term Details

Compound
CDB005143 (L-Cystathionine)
Term
Cystathioninuria
Definition
An amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the cth gene on chromosome 1p31. (do).
Parent Term
Health condition
Parent Definition
A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.
Synonyms
  • Cystathionase deficiency
  • Other Compounds Mapped to 'Cystathioninuria'
  • CDB005143 (L-Cystathionine)
  • References