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Summary Literature (0)
DOID:9263 - homocystinuria

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

Synonyms: CBS deficiency, cystathionine beta synthase deficiency, cystathionine synthase deficiency

Xenbase Genes : mthfr, cbs

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0004737 - homocystinuria


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a)