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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:Beta-Ureidopropionase Deficiency
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Accession:DOID:9000223 term browser browse the term
Synonyms:exact_synonym: UPB1D
 primary_id: MESH:C563210
 alt_id: OMIM:613161


show annotations for term's descendants           Sort by:
Beta-Ureidopropionase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Upb1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Beta-ureidopropionase deficiency		 OMIM
CTD
ClinVar		 PMID:11783491 PMID:15385443 PMID:16199547 PMID:17065070 PMID:17964839 More... NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          movement disease 2584
            Beta-Ureidopropionase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Beta-Ureidopropionase Deficiency 1
paths to the root