DISEASES

Disease-gene associations mined from literature

Human genes for homocystinuria

Homocystinuria [DOID:9263]

An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.

Synonyms:  homocystinuria,  DOID:9263,  CBS deficiency,  Homocystinuria (disorder),  cystathionine beta synthase deficiency ...

Linkouts:  OMIM #1 #2 #3 #4