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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;   RDO:0012559
 alt_id: OMIM:613161
For additional species annotation, visit the Alliance of Genome Resources.


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Beta-Ureidopropionase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Upb1 beta-ureidopropionase 1 ISO ClinVar Annotator: match by OMIM:613161
ClinVar Annotator: match by term: Beta-ureidopropionase deficiency
OMIM
ClinVar
PMID:15385443 PMID:17964839 PMID:22525402 PMID:23238479 PMID:24033266 PMID:24123366 PMID:24526388 PMID:25445412 PMID:25638458 PMID:25741868 PMID:28492532 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          movement disease 1237
            Beta-Ureidopropionase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            movement disease 1237
              Beta-Ureidopropionase Deficiency 1
paths to the root