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Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | orotic aciduria | |
| Synonyms |
orotic aciduria II (formerly) UMP synthtase deficiency Umps deficiency OPRT and ODC deficiency Ump synthase deficiency UMPS hereditary orotic aciduria orotic aciduria without megaloblastic Anemia orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency oroticaciduria 1 orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency orotate phosphoribosyltransferase and OMP decarboxylase deficiency uridine monophosphate synthase deficiency orotic aciduria 1 orotic aciduria type 1 orotidylic decarboxylase deficiency orotic aciduria oroticaciduria uridine monophosphate synthetase deficiency |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009797 |
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| altLabel |
orotic aciduria II (formerly) UMP synthtase deficiency Umps deficiency OPRT and ODC deficiency Ump synthase deficiency UMPS hereditary orotic aciduria orotic aciduria without megaloblastic Anemia orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency oroticaciduria 1 orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency orotate phosphoribosyltransferase and OMP decarboxylase deficiency uridine monophosphate synthase deficiency orotic aciduria 1 orotic aciduria type 1 orotidylic decarboxylase deficiency orotic aciduria oroticaciduria uridine monophosphate synthetase deficiency
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|
| definition |
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.
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| has_exact_synonym |
orotidylic decarboxylase deficiency orotic aciduria oroticaciduria uridine monophosphate synthetase deficiency
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| has_related_synonym |
orotic aciduria II (formerly) UMP synthtase deficiency Umps deficiency OPRT and ODC deficiency Ump synthase deficiency UMPS hereditary orotic aciduria orotic aciduria without megaloblastic Anemia orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency oroticaciduria 1 orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency orotate phosphoribosyltransferase and OMP decarboxylase deficiency uridine monophosphate synthase deficiency orotic aciduria 1 orotic aciduria type 1
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| label |
orotic aciduria
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| prefixIRI |
MONDO:0009797
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| prefLabel |
orotic aciduria
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| textual definition |
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.
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