Dataset | ClinVar Gene-Phenotype Associations |
Category | disease or phenotype associations |
Type | phenotype |
Description | A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. (Human Disease Ontology, DOID_0050833) |
External Link | http://www.omim.org/entry/258900 |
Similar Terms | |
Downloads & Tools |
1 genes associated with the Orotic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Symbol | Name |
---|---|
UMPS | uridine monophosphate synthetase |