Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency.
D000642:Ammonia-Lyases / Q000172:deficiency*; D002675:Child, Preschool; D005260:Female; D005565:Formiminoglutamic Acid / Q000652:urine*; D051042:Glutamate Formimidoyltransferase; D005977:Glutarates / Q000652:urine*; D006711:Homocystine / Q000652:urine*; D006801:Humans; D019877:Hydroxymethyl and Formyl Transferases; D008534:Megaloblasts / Q000166:cytology; D009963:Orotic Acid / Q000652:urine*; D011086:Polycythemia / Q000150:complications*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism*; D014166:Transferases / Q000172:deficiency*
D005977:Glutarates; D006711:Homocystine; D009963:Orotic Acid; D005565:Formiminoglutamic Acid; D014166:Transferases; D019877:Hydroxymethyl and Formyl Transferases; D051042:Glutamate Formimidoyltransferase; D000642:Ammonia-Lyases; C020148:formiminotetrahydrofolate cyclodeaminase