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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:Decreased Urinary Activity of Kallikrein
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Accession:DOID:9004915 term browser browse the term
Synonyms:primary_id: MESH:C563653
 alt_id: MIM:615953


show annotations for term's descendants           Sort by:
Decreased Urinary Activity of Kallikrein term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk1 kallikrein 1 ISO ClinVar Annotator: match by term: Kallikrein, decreased urinary activity of
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:11912256 PMID:15765151 NCBI chr 1:103,779,152...103,783,270
Ensembl chr 1:103,779,164...103,783,270 		JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Kallikrein, decreased urinary activity of ClinVar PMID:25741868 NCBI chr17:86,959,621...86,961,475
Ensembl chr17:86,959,621...86,961,475 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          Decreased Urinary Activity of Kallikrein 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            Decreased Urinary Activity of Kallikrein 2
paths to the root