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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: OMIM:615953
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:11912256 PMID:15765151 NCBI chr 1:94,642,722...94,646,714
Ensembl chr 1:94,642,687...94,646,754
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Nutritional and Metabolic Diseases 6780
      disease of metabolism 6780
        inherited metabolic disorder 4684
          Decreased Urinary Activity of Kallikrein 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          inherited metabolic disorder 4684
            Decreased Urinary Activity of Kallikrein 1
paths to the root