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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:orotic aciduria
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Accession:DOID:0050833 term browser browse the term
Definition:A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. (DO)
Synonyms:exact_synonym: OPRT AND ODC DEFICIENCY;   OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY;   OROTIC ACIDURIA I;   Orotate phosphoribosyltransferase and omp decarboxylase deficiency;   Oroticaciduria 1;   Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency;   UMP SYNTHASE DEFICIENCY;   UMPS-RELATED CONDITION;   Uridine monophosphate synthase deficiency;   hereditary orotic aciduria;   hereditary orotic aciduria, type 1;   uridine monophosphate synthetase deficiency
 narrow_synonym: OAWA;   UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA
 primary_id: MESH:C537136
 alt_id: OMIM:258900
 xref: NCI:C98944;   ORDO:30


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orotic aciduria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: Orotic aciduria | ClinVar Annotator: match by term: UMPS-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9042911 PMID:16199547 PMID:25741868 PMID:25757096 PMID:28205048 More... NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          purine-pyrimidine metabolic disorder 205
            orotic aciduria 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            pyrimidine metabolic disorder 2
              orotic aciduria 1
paths to the root