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Human Phenotype Ontology
Last uploaded:
January 16, 2025
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| Preferred Name | Oroticaciduria | |
| Synonyms |
Orotic aciduria High urine orotic acid levels Increased urinary orotic acid concentration |
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| Definitions |
An increased concentration of orotic acid in the urine. Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis. |
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| ID |
http://purl.obolibrary.org/obo/HP_0003218 |
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| comment |
Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis.
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| database_cross_reference |
UMLS:C0268128 SNOMEDCT_US:124277009 SNOMEDCT_US:47641009
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|
| definition |
An increased concentration of orotic acid in the urine.
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| has_alternative_id |
HP:0010928 HP:0000810
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| has_exact_synonym |
High urine orotic acid levels Increased urinary orotic acid concentration
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| has_obo_namespace |
human_phenotype
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| has_related_synonym |
Orotic aciduria
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|
| id |
HP:0003218
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|
| label |
Oroticaciduria
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|
| notation |
HP:0003218
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| prefLabel |
Oroticaciduria
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| treeView | ||
| subClassOf |
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