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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:Uridine-Cytidineuria
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Accession:DOID:9002276 term browser browse the term
Synonyms:exact_synonym: URCTU
 primary_id: OMIM:618477
For additional species annotation, visit the Alliance of Genome Resources.



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Uridine-Cytidineuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: URIDINE-CYTIDINEURIA
ClinVar Annotator: match by term: Uridine-cytidineuria
OMIM
ClinVar
PMID:14978229 PMID:21998139 PMID:30847922 NCBI chr 1:135,079,375...135,122,791
Ensembl chr 1:135,081,385...135,122,464
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          Uridine-Cytidineuria 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          inherited metabolic disorder 2633
            Uridine-Cytidineuria 1
paths to the root