OBO ID: DOID:9263
Term Name: homocystinuria Search Ontology:
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 homocystinuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CBS Thrombosis, hyperhomocysteinemic 236200
Homocystinuria, B6-responsive and nonresponsive types 236200
MTHFR Homocystinuria due to MTHFR deficiency 236250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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