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Hereditary orotic aciduria, type 1

MedGen UID:
120611
•Concept ID:
C0268130
•
Disease or Syndrome
Synonyms: Orotate phosphoribosyltransferase and omp decarboxylase deficiency; Oroticaciduria 1; Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; Uridine monophosphate synthase deficiency; Uridine monophosphate synthetase deficiency
SNOMED CT: Hereditary orotic aciduria, type 1 (69525003); Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency (69525003); UMP synthase deficiency (69525003); OPRT AND OMP decarboxylase deficiency (69525003); Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency (69525003); Hereditary orotic aciduria type 1 (69525003); UMPS - Uridine monophosphate synthase deficiency (69525003); Uridine monophosphate synthase deficiency (69525003)
 
OMIM®: 258900; 613891

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