orotic aciduria
Sign in to saveAlso known as hereditary orotic aciduria, Ump Synthase Deficiency, Uridine Monophosphate Synthase Deficiency, Oroticaciduria, Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency, Uridine monophosphate synthetase deficiency, Oprt and Odc Deficiency
pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine
In the Vinony graph
Vinony's link graph records 33 inbound references to orotic aciduria, and connects out to UMPS, International Standard Book Number and enzyme.
Vinony files it under Autosomal recessive disorders and Inborn errors of purine-pyrimidine metabolism.
Vinony links it to 8 Wikipedia language editions.
Research
208 papers- Orotic aciduria.Nutrition reviews · 1969
- Orotic aciduria and species specificity.Nutrition reviews · 1984
- [Orotic aciduria].Ryoikibetsu shokogun shirizu · 1997
- Hereditary orotic aciduria identified by newborn screening.Frontiers in genetics · 2023
- Orotic aciduria and uridine monophosphate synthase: a reappraisal.Journal of inherited metabolic disease · 2009
via PubMed
Wikidata facts
Show 5 more facts
- health specialty
- hematology
- exact match
- www.orpha.net/ORDO/Orphanet_30
- NCI Thesaurus ID
- C98944
- genetic association
- UMPS
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (6)
via Wikidata · CC0
Connections
UMPS
Gene
International Standard Book Number
Entity
enzyme
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digital object identifier
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International Standard Serial Number
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gout
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hematology
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folic acid
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OCLC, Inc.
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PubMed
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International Statistical Classification of Diseases and Related Health Problems
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vitamin B12
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pyrimidine
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PubMed Central
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Medical Subject Headings
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medical specialty
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Diseases Database
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Online Mendelian Inheritance in Man
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ICD-10
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urea cycle
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