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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: MIM:618477
 xref: MONDO:0032773


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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 OMIM
ClinVar		 PMID:14978229 PMID:21998139 PMID:25741868 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 19050
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        inherited metabolic disorder 6611
          Uridine-Cytidineuria 1
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          inherited metabolic disorder 6611
            Uridine-Cytidineuria 1
paths to the root