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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:0004737 - metanephric collecting duct |
| MIM:236200 - HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY |
| MIM:236250 - HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY |
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)