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Term information

database cross reference
  • Orphanet:30 (OMIM:258900)
  • DOID:0050833 (MONDO:equivalentTo)
  • OMIM:258900 (Orphanet:30/e)
  • MedDRA:10052621 (Orphanet:30/e)
  • GARD:0005429 (MONDO:equivalentTo)
  • SCTID:47641009 (MONDO:equivalentTo)
  • NCIT:C98944 (MONDO:equivalentTo)


UMPS [ GARD : 0005429 ]
  • An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.
has exact synonym
  • orotidylic decarboxylase deficiency
  • orotic aciduria
  • oroticaciduria
  • uridine monophosphate synthetase deficiency
has related synonym
  • uridine monophosphate synthase deficiency
  • UMPS
  • orotic aciduria II (formerly)
  • OPRT and ODC deficiency
  • Ump synthase deficiency
  • UMP synthtase deficiency
  • orotic aciduria type 1
  • hereditary orotic aciduria
  • orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency
  • oroticaciduria 1
  • orotic aciduria without megaloblastic Anemia
  • Umps deficiency
  • orotate phosphoribosyltransferase and OMP decarboxylase deficiency
  • orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency
  • orotic aciduria 1
  • MONDO:0009797